DOCTOR Susan Concepcion-Echiverri is one of the active consultant-alumnae of the Mu Sigma Phi sorority of the University of the Philippines College of Medicine. She is a clinical geneticist and current chair of the Division of Genetics and Metabolism at the Cook County Hospital in Chicago, Illinois.

A clinical geneticist helps evaluate and diagnose what can be disastrous conditions, such as newborns with congenital malformations, pregnant women carrying fetuses with anomalies, patients who may have hereditary colon cancers or those who have developed worsening neurologic disorders.

When the parents of a child with a congenital problem see Dr. Echiverri coming with a serious expression on her face, they know that she has sad news to convey. In the article she wrote for the August issue of H&L (Health & Lifestyle) magazine, she shares poignantly the challenge of maintaining one?s composure and showing empathy; while plowing through with the whats and the hows, and pulling in other details in explaining the bad news to the family of someone with genetic abnormalities.

Excerpts from her article read:

?I used to be terrified. Most of the time, the news I was appointed to give was dreadful. Nothing has changed over the course of time. A diagnosis of a genetic condition is always objectionable to receive, much less to convey. In the beginning of my career, I realized that a straightforward script invariably fell apart. It was not clear how I could save the moment of denouement.

In any conversation, there is reactivity. The cadences should pattern itself on the mood, the ethos, the palpable affect.

Constructed dialog

In my field, there is always bad news I must give and I have gotten savvier, sad to say. I always go into disclosure with a plan for constructed dialogue. I prepare answers to what and why and how and where do we go from there. As soon as I start explaining though, I expect the deconstruction to begin.

Sometimes, I know the diagnosis instantly and, while I can tell the bad news, I can also always follow up with the good news because I am a believer that there always is that, though hidden. This is the case with Down syndrome. I am always ready with instantaneous diagnosis in these cases. Although newly delivered parents are apprehensive and always ask about 10 fingers and toes, none of them are ever prepared for somebody to demolish a traditionally joyful day.

As I plow through with the whats and the hows, I subliminally pull in other details. I enumerate the many pieces of good news that each child with Down syndrome brings. ?Your child will have soft brown eyes like yours. This daughter will smile at you and her friends with a sparkle in her eyes. Your baby definitely wants to eat and will love going out with you. She has Down syndrome, not because of what you ate or drank, not because you slept less or lost your temper. It is not your fault nor hers.?

Although there is always empathy and understanding, I maintain my composure. I also stay steadfast. When they ask me about my credentials. I see the terror behind the tilt of the chin and the fear behind the blaze of the eyes. ?No, she will not outgrow it,? I declare. I do not cry with them. I remain strong, for they need me to be strong. The baby needs to be fed, changed and hugged.

Disclosures are not just the telling of diagnoses nor test results. Each statement that is communicated has to be expounded. With my other patients, the disclosure is not just the beginning of the doctor-patient relationship; the disclosure becomes the relationship. The clock ticks on these occasions but nobody hears them. The reactive conversations continue and the cadences change, not over minutes, but over days, and in some, over infinite long stretches of time.?

Touched

I was touched when I read Dr. Echiverri?s article. It really requires a great amount of skill and empathy to break the bad news to the family of someone with congenital abnormalities.

Genetic screening is actually available already in the Philippines. It helps detect inborn disorders through blood testing in babies, particularly during the first 48 hours after birth. ?With a simple prick in an infant?s heel, a family is informed if their child has a congenital disorder and forewarned of its possible complications. With one quick step, a baby may be given a second chance at life,? writes Leisa Jeanne Kaye C. Gobenciong, a member also of the Mu Sigma Phi sorority.

The National Institutes of Health in the Philippines has identified five metabolic and genetic conditions, with the highest incidence in the country; and tests for these five are already available. These five most common genetic inborn abnormalities are phenylketonuria, galactosemia, congenital adrenal hyperplasia, congenital hypothyroidism and glucose-6-phosphate-dehydrogenase deficiency.

We also have local specialists in this field; thanks to the efforts of Doctors Carmencita David-Padilla and Carmelita Domingo who initiated the program via the Newborn Screening Study Group.

Incidentally, the Mu Sigma Phi sorority is also involved with various other health-related programs, one of which is for patients with cervical cancer, where early detection could be life-saving. The sorority is organizing Brilyante, a fashion show fund-raising activity on Aug. 28 at the NBC tent in Fort Bonifacio. Those interested to participate in this and other lofty projects of the sorority may text 0917-8431953.